结外B细胞淋巴瘤组织中API2-MALT1融合基因的检测及其意义  

Detection of API2-MALT1 fusion gene in extranodal B-cell lymphoma and its significance

作　　者：杨文秀[1] 李甘地[1] 周桥[1] 刘卫平[1] 李雷[1] 陈铌[1] 

机构地区：[1]四川大学华西医院病理科

出　　处：《中华病理学杂志》2006年第2期92-96,共5页Chinese Journal of Pathology

基　　金：国家自然科学基金资助项目(30370600);纽约中华医学基金会基金资助项目(CMB00722)

摘　　要：目的了解API2MALT1融合基因mRNA多种变异体在多个部位黏膜相关淋巴组织结外边缘区B细胞淋巴瘤(MALT淋巴瘤)、结外弥漫大B细胞淋巴瘤(DLBCL)以及桥本甲状腺炎中的分布特征,探讨t(11;18)(q21;q21)与上述淋巴瘤的临床病理特征和预后的关系及意义。方法收集手术切除的MALT淋巴瘤62例(肺10例、胃31例、肠9例及甲状腺12例)、DLBCL32例(胃16例、肠13例和甲状腺3例)及桥本甲状腺炎8例标本,通过逆转录聚合酶链反应(RTPCR)检测所有病例的API2MALT1mRNA,5例淋巴结反应性增生作为阴性对照。根据检测结果将94例淋巴瘤分为API2MALT1阳性及阴性组,比较两组的临床病理特征和生存率(随访6～120个月)。结果94例淋巴瘤中39例检出API2MALT1mRNA(MALT淋巴瘤28例,结外DLBCL11例)。8例桥本甲状腺炎及阴性对照组均未检出融合基因。共检出A1446M814和A1446M1123两种变异体,以后者多见。融合基因mRNA检出率在甲状腺淋巴瘤最低,而在肺、胃肠较高。与阴性组相比,阳性组临床分期较早,浸润程度较轻、复发率较低,5年生存率较高。结论API2MALT1融合基因mRNA在MALT淋巴瘤和结外DLBCL中都可被检出,而在桥本甲状腺炎中未检出。MALT1基因在1123bp断点较高的发生率可能是国人API2MALT1形成时的一个特点;表达API2MALT1融合基因的B细胞淋巴瘤具有更加惰性的临床过程和较好的存活情况,将其视为同一谱系更能体现其发展。Objective To study the expression of API2-MALT1 mRNA in mueosa-associated lymphoid tissue （MALT） lymphoma, extranodal diffuse large B-cell lymphoma （DLBCL） and Hashimoto＇s thyroiditis, to investigate the expression pattern of API2-MALT1 variants, and to correlate the findings with the clinicopathologic features and prognosis. Methods Sixty-two cases of MALT lymphoma （ 10 from lung, 31 from stomach, 9 from intestine and 12 from thyroid）, 32 cases of extranodal DLBCL （ 16 from stomach, 13 from intestine and 3 from thyroid）, 8 cases of Hashimoto＇s thyroiditis and 5 cases of reactive lymph nodes hyperplasia as negative controls were collected. The expression of API2-MALT1 mRNA was studied in all cases by reverse transcriptase （RT）-polymerase chain reaction （PCR） and nested PCR. The 94 cases of lymphoma were subdivided into API2-MALT1-positive and API2-MALT1-negative groups. Among the patients, 78 were followed up for 6 to 120 months. The differences in clinicopathologic features and prognosis between the two groups were analyzed. Results API2-MALT1 transcripts were detected in 39 of the 94 lymphoma eases （with 28 eases being MALT lymphoma and 11 eases being extranodal DLBCL）. mRNA expression was not detected in all eases of Hashimoto＇s thyroiditis and the negative controls. Two fusion gene variants, A1446-M1123 and A1446-M814 were found, and A1446-M1123 expression was more common. As for MALT lymphoma eases, the frequency of the fusion gene expression was lower in thyroid, when compared with that in lung, stomach and intestine. API2-MALT1-positive eases had tumors in an earlier stage with milder infiltration of cancer cells, lower relapse rate, and higher five-year survival rate. Condusions The expression of API2-MALT1 mRNA can be detected in beth MALT lymphoma and extranodal DLBCL, but not in Hashimoto＇s thyroiditis. These eases tend to show a more indolent clinical course and better survival. The frequency of t（ 11 ; 18 ） （ q21 ;q21 ） correlates with the primary sites of

关 键 词：淋巴瘤 黏膜相关淋巴样组织 淋巴瘤 大细胞 弥漫型 基因融合 预后 

分 类 号：R733.1[医药卫生—肿瘤]